ZNF605

zinc finger protein 605, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 12:132918305-132956306

Links

ENSG00000196458 ∙ NCBI:100289635 ∙ ∙ HGNC:28068 ∙ Uniprot:Q86T29 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF605 gene.

• Inborn genetic diseases (14 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF605 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	13	2	0

Variants in ZNF605

This is a list of pathogenic ClinVar variants found in the ZNF605 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-132925431-C-T		not specified	Uncertain significance (Aug 02, 2021)
12-132925449-T-C		not specified	Uncertain significance (Nov 28, 2023)
12-132925540-T-G			Likely benign (Apr 01, 2022)
12-132925557-C-A		not specified	Uncertain significance (Sep 22, 2023)
12-132925606-C-T		not specified	Uncertain significance (Jan 23, 2023)
12-132925738-G-C		not specified	Uncertain significance (Jan 23, 2024)
12-132926107-A-G		not specified	Uncertain significance (Apr 08, 2022)
12-132926130-T-G		not specified	Likely benign (Sep 01, 2021)
12-132926287-C-T		not specified	Uncertain significance (Jul 12, 2022)
12-132926386-C-T		not specified	Uncertain significance (Dec 14, 2021)
12-132926394-G-A		not specified	Uncertain significance (Aug 09, 2021)
12-132926615-G-C		not specified	Uncertain significance (Jan 04, 2023)
12-132926762-G-C		not specified	Uncertain significance (May 04, 2022)
12-132926763-T-A		not specified	Uncertain significance (May 04, 2022)
12-132927030-A-G		not specified	Uncertain significance (Sep 14, 2022)
12-132927137-C-A		not specified	Uncertain significance (Mar 30, 2022)
12-132927155-C-A		not specified	Uncertain significance (Nov 12, 2021)
12-132927160-C-T		not specified	Uncertain significance (Mar 24, 2023)
12-132932777-C-T		not specified	Likely benign (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF605	protein_coding	protein_coding	ENST00000392321	4	34874

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.401	0.564	125726	0	6	125732	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.23	74	110	0.670	0.00000488	4491
Missense in Polyphen		32	52.157	0.61354		1587
Synonymous	0.938	30	37.3	0.804	0.00000175	1145
Loss of Function	1.67	1	5.05	0.198	2.09e-7	361

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000310	0.0000310
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Haploinsufficiency Scores

• pHI: 0.183
• hipred: N
• hipred_score: 0.380
• ghis: 0.622

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.648

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Zfp605

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: transcription regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;metal ion binding